Detection of Inherited Diseases

Question 1

Polymorphism:

1 – located within genes or outside of genes.

2. – useful for mapping disease genes, determining parentage, and identity testing.
3. – can have offsetting phenotypes.

Answer 1

Sequence polymorphisms
Benign polymorphisms
Balanced polymorphisms

Question 2

: do not change the primary DNA sequence.

Answer 2

Epigenetic alterations

Question 3

Epigenetic changes consist of three different forms:

1. – usually alterations of cytosine in CpG islands; mostly downregulates RNA transcription.
2. – selectively inactivates chromosomal regions (e.g., X chromosome inactivation).
3. – sequesters large regions of chromosomal DNA through protein binding and histone modification; Histone modification controls the availability of DNA for RNA transcription.

Answer 3

DNA methylation
Genomic imprinting
Chromatin remodeling

Question 4

Mutations in germ cells result in

Mutations in somatic cells result in

Answer 4

inherited disease

CANCER and some CONGENITAL MALFORMATIONS.

Question 5

Diseases with genetic components are often referred to as

Answer 5

congenital (“born with”) diseases.

Question 6

Congenital disorders are NOT necessarily heritable, however. Congenital disorders are those present in individuals at

Answer 6

birth

Question 7

Specifically, congenital disorders result when some factor, such as:

(4)

Answer 7

1. Drug
2. Chemical
3. Infection
4. Injury

Upsets the developmental process.

Question 8

– two or more genetically distinct populations of cells from one zygote in an individual; Early segregation errors during fertilized egg division occasionally give rise to mosaicism relatively common with sex chromosomes
➢Less degree of genetic change.

Answer 8

Mosaicism

Question 9

– two or more genetically distinct cell populations from different zygotes in an individual), results from mutation events affecting somatic or germ cells.
➢High degree of genetic change.

Answer 9

Chimerism

Question 10

is a diagram of the inheritance pattern of a phenotype of family members.

Answer 10

pedigree

Question 11

GENETIC INHERITANCE TERMS

: alternative forms of a gene that occupy a specific locus on a specific gene

➢ : having two different alleles for a given gene

➢ : having two identical alleles for a given gene

Answer 11

Allele

Heterozygous

Homozygous

Question 12

GENETIC INHERITANCE TERMS

: pattern of inheritance that corresponds to the equal, distinct, and simultaneous expression of two different alleles

➢ : describes a trait that is expressed both in homozygous and heterozygous form

➢ : describes a trait that is only expressed in homozygous form and is masked in heterozygous form

➢ : heterozygous individual who does not display symptoms of a recessive genetic disorder but can transmit the disorder that corresponds to the equal, distinct, and simultaneous expression of two differen to his or her offspring

Answer 12

Codominance

Dominant

Recessive

Carrier

Question 13

GENETIC INHERITANCE TERMS

➢: in humans, the 22 pairs of chromosomes that are not the sex chromosomes (XX or XY)

➢: pattern of dominant inheritance that corresponds to a gene on one of the 22 autosomal chromosomes

➢: pattern of recessive inheritance that corresponds to a gene on one of the 22 autosomal chromosomes

Answer 13

autosomal chromosome

autosomal dominant

autosomal recessive

Question 14

GENETIC INHERITANCE TERMS

: pattern of inheritance in which an allele is carried on the X chromosome of the 23rd pair

: pattern of dominant inheritance that corresponds to a gene on the X chromosome of the 23rd pair

➢: pattern of recessive inheritance that corresponds to a gene on the X chromosome of the 23rd pair

Answer 14

X-linked

➢X-linked dominant

X-linked recessive